Detecting Pedigree Relationship Errors

Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1666)

Abstract

Pedigree relationship errors often occur in family data collected for genetic studies, and unidentified errors can lead to either increased false positives or decreased power in both linkage and association analyses. Here, we review several allele sharing as well as likelihood-based statistics that were proposed to efficiently extract genealogical information from available genome-wide marker data, and the software package PREST that implements these methods. We provide the detailed analytical steps involved using two application examples, and we discuss various practical issues, including result interpretation.

Key words

Pedigree error Relationship estimation IBD IBS IIS Allele sharing Likelihood Hidden Markov model EM algorithm Software PREST PREST-plus Multiple hypothesis testing Simulation Linkage Association Robustness 

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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  1. 1.Department of Statistical Sciences, Faculty of Arts and ScienceUniversity of TorontoTorontoCanada
  2. 2.Division of Biostatistics, Dalla Lana School of Public HealthUniversity of TorontoTorontoCanada

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